αl-Antitrypsin Deficiency: An Overview
作者:
SteenbergenW. Van,
期刊:
Acta Clinica Belgica
(Taylor Available online 1993)
卷期:
Volume 48,
issue 3
页码: 171-189
ISSN:1784-3286
年代: 1993
DOI:10.1080/17843286.1993.11718305
出版商: Taylor&Francis
数据来源: Taylor
摘要:
Summary1αl-antitrypsin is an antiprotease that inhibits the neutrophil elastase enzyme, and belongs to a family of structurally related serine proteinase inhibitors (serpins). Its methionine358residue determines the specificity for elastase.2 The normal M-type al-antitrypsin is mainly synthesized in the liver parenchymal cells and transPorted to the plasma. Abnormal Z-mutantαl-antitrypsin is retained in the endoplasmic reticulum, which leads to its intracellular accumulation and to Markedly decreased plasma levels.3 In normal conditions, al-antitrypsin protects the lungs from destruction by the proteolytic neutrophil elastase. A protease/antiprotease imbalance in the lung is responsible for the development of emphysema in severe al-antitrypsin deficiency and in cigarette smokers, and accounts for the marked acceleration of e lung disease in smoking al-antitrypsin deficient patients. Smoking has to be avoided in al-antitrypsin deficient patients. Replacement therapy with plasma-derived al-antitrypsin seems indicated inαl-antitrypsin deficient patients with emphysema.Intracellular accumulation of abnormal Z-αl-antitrypsin molecules in liver parenchymal cells may lead to liver disease, ranging from neonatal cholestasis to adulthood cirrhosis and hepatocellular carcinoma.
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